Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I.
Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I.
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DOI：
10.1126/science.1200587
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发表时间：
2011-04-08
期刊：
影响因子：
--
通讯作者：
de la Chapelle A
中科院分区：
文献类型：
--
作者：
He H;Liyanarachchi S;Akagi K;Nagy R;Li J;Dietrich RC;Li W;Sebastian N;Wen B;Xin B;Singh J;Yan P;Alder H;Haan E;Wieczorek D;Albrecht B;Puffenberger E;Wang H;Westman JA;Padgett RA;Symer DE;de la Chapelle A
Small nuclear RNAs (snRNAs) are essential factors in mRNA splicing. By homozygosity mapping and deep sequencing, we show that a gene encoding U4atac snRNA, a component of the minor U12-dependent spliceosome, is mutated in individuals with microcephalic osteodysplastic primordial dwarfism type I (MOPD I), a severe developmental disorder characterized by extreme intrauterine growth retardation and multiple organ abnormalities. Functional assays show that mutations (30G>A, 51G>A, 55G>A, and 111G>A) associated with MOPD I cause defective U12-dependent splicing. Endogenous U12-dependent but not U2-dependent introns are poorly spliced in MOPD I patient fibroblast cells while introduction of wild type U4atac snRNA into MOPD I cells enhances U12-dependent splicing. These results illustrate the critical role of minor intron splicing in human development.
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